Journal of Korean medical science
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J. Korean Med. Sci. · Aug 2010
Case ReportsA case of congenital central hypoventilation syndrome with PHOX2B gene mutation in a Korean neonate.
Congenital central hypoventilation syndrome (CCHS) is a life-threatening disorder with apnea and cyanosis during sleep requiring immediate endotracheal intubation during the first day of life. The PHOX2B gene has been identified as the major gene involved in CCHS. ⋯ He consistently needs ventilator support during sleep and remains alive. Analysis of PHOX2B gene is useful for diagnosis and appropriate therapeutic intervention of CCHS patients.
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J. Korean Med. Sci. · Jul 2010
Case ReportsAutosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.
Multiple epiphyseal dysplasia is caused by heterogeneous genotypes involving more than six genes. Recessive mutations in the DTDST gene cause a phenotype of recessive multiple epiphyseal dysplasia (rMED). The authors report a 9-yr old Korean girl with the rMED phenotype having novel compound heterozygous mutations in the DTDST gene, which were inherited from both parents. This is the first Korean rMED case attributed to DTDST mutations, and expands the spectrum of diseases caused by DTDST mutations.
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The Muenke syndrome (MS) is characterized by unicoronal or bicoronal craniosynostosis, midfacial hypoplasia, ocular hypertelorism, and a variety of minor abnormalities associated with a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. The birth prevalence is approximately one in 10,000 live births, accounting for 8-10% of patients with coronal synostosis. Although MS is a relatively common diagnosis in patients with craniosynostosis syndromes, with autosomal dominant inheritance, there has been no report of MS, in an affected Korean family with typical cephalo-facial morphology that has been confirmed by molecular studies. ⋯ This patient had mild midfacial hypoplasia, hypertelorism, downslanting palpebral fissures, a beak shaped nose, plagio-brachycephaly, and mild neurodevelopmental delay. The same mutation was confirmed in the patient's mother, two of the mother's sisters and the maternal grandfather. The severity of the cephalo-facial anomalies was variable among these family members.
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J. Korean Med. Sci. · Jul 2010
Multicenter StudyBloodstream infections and clinical significance of healthcare-associated bacteremia: a multicenter surveillance study in Korean hospitals.
Recent changes in healthcare systems have changed the epidemiologic paradigms in many infectious fields including bloodstream infection (BSI). We compared clinical characteristics of community-acquired (CA), hospital-acquired (HA), and healthcare-associated (HCA) BSI. We performed a prospective nationwide multicenter surveillance study from 9 university hospitals in Korea. ⋯ High Pitt score and inappropriate empirical antibiotic therapy were the independent risk factors for mortality by multivariate analysis. In conclusion, the present data suggest that clinical features, outcome, and microbiologic features of causative pathogens vary by origin of BSI. Especially, HCA-BSI shows unique clinical characteristics, which should be considered a distinct category for more appropriate antibiotic treatment.
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J. Korean Med. Sci. · Jul 2010
Case ReportsHigh frequency jet ventilation of one lung using a bronchial blocker of Univent during carinal resection.
Airway management during carinal resection should provide adequate ventilation and oxygenation as well as a good surgical field, but without complications such as barotraumas or aspiration. One method of airway management is high frequency jet ventilation (HFJV) of one lung or both lungs. We describe a patient undergoing carinal resection, who was managed with HFJV of one lung, using a de-ballooned bronchial blocker of a Univent tube without cardiopulmonary compromise. HFJV of one lung using a bronchial blocker of a Univent tube is a simple and safe method which does not need additional catheters to perform HFJV and enables the position of the stiffer bronchial blocker more stable in airway when employed during carinal resection.